Canonical Allele Identifier: CA1519161548

Gene: CASP3

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184648326_184648328delinsCAG , CM000666.2:g.184648326_184648328delinsCAG	GRCh38
NC_000004.11:g.185569480_185569482delinsCAG , CM000666.1:g.185569480_185569482delinsCAG	GRCh37
NC_000004.10:g.185806474_185806476delinsCAG	NCBI36
NG_051582.1:g.3714_3716delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.-16+137_-16+139delinsCTG	ENSP00000514797.1:n.-16+137_-16+139delinsCTG
ENST00000700101.1:c.-16+1664_-16+1666delinsCTG	ENSP00000514798.1:n.-16+1664_-16+1666delinsCTG
ENST00000700102.1:n.53+1067_53+1069delinsCTG
ENST00000700103.1:n.53+1067_53+1069delinsCTG
ENST00000700104.1:c.-16+1067_-16+1069delinsCTG	ENSP00000514799.1:n.-16+1067_-16+1069delinsCTG
ENST00000308394.9:c.-16+137_-16+139delinsCTG MANE Select	ENSP00000311032.4:n.-16+137_-16+139delinsCTG
ENST00000308394.8:c.-16+137_-16+139delinsCTG	ENSP00000311032.4:n.-16+137_-16+139delinsCTG
ENST00000393585.6:c.-208+137_-208+139delinsCTG	ENSP00000377210.2:n.-208+137_-208+139delinsCTG
ENST00000393588.8:c.-16+1067_-16+1069delinsCTG	ENSP00000377213.4:n.-16+1067_-16+1069delinsCTG
ENST00000447121.2:c.-16+175_-16+177delinsCTG	ENSP00000407142.2:n.-16+175_-16+177delinsCTG
ENST00000517513.5:c.-16+137_-16+139delinsCTG	ENSP00000428372.1:n.-16+137_-16+139delinsCTG
ENST00000523916.5:c.-16+1067_-16+1069delinsCTG	ENSP00000428929.1:n.-16+1067_-16+1069delinsCTG
ENST00000613118.4:c.-181+137_-181+139delinsCTG	ENSP00000478339.1:n.-181+137_-181+139delinsCTG
NM_004346.3:c.-16+137_-16+139delinsCTG	NP_004337.2:n.-16+137_-16+139delinsCTG
NM_032991.2:c.-16+1067_-16+1069delinsCTG	NP_116786.1:n.-16+1067_-16+1069delinsCTG
XM_011532301.1:c.-16+175_-16+177delinsCTG	XP_011530603.1:n.-16+175_-16+177delinsCTG
NM_001354777.1:c.-16+175_-16+177delinsCTG	NP_001341706.1:n.-16+175_-16+177delinsCTG
NM_001354779.1:c.-90+1067_-90+1069delinsCTG	NP_001341708.1:n.-90+1067_-90+1069delinsCTG
NM_001354780.1:c.-90+137_-90+139delinsCTG	NP_001341709.1:n.-90+137_-90+139delinsCTG
NM_001354781.1:c.-16+1067_-16+1069delinsCTG	NP_001341710.1:n.-16+1067_-16+1069delinsCTG
NM_001354782.1:c.-16+137_-16+139delinsCTG	NP_001341711.1:n.-16+137_-16+139delinsCTG
NM_001354783.1:c.-181+137_-181+139delinsCTG	NP_001341712.1:n.-181+137_-181+139delinsCTG
NM_001354784.1:c.-90+1067_-90+1069delinsCTG	NP_001341713.1:n.-90+1067_-90+1069delinsCTG
NM_004346.4:c.-16+137_-16+139delinsCTG MANE Select	NP_004337.2:n.-16+137_-16+139delinsCTG
NM_001354777.2:c.-16+175_-16+177delinsCTG	NP_001341706.1:n.-16+175_-16+177delinsCTG
NM_001354779.2:c.-90+1067_-90+1069delinsCTG	NP_001341708.1:n.-90+1067_-90+1069delinsCTG
NM_001354780.2:c.-90+137_-90+139delinsCTG	NP_001341709.1:n.-90+137_-90+139delinsCTG
NM_001354781.2:c.-16+1067_-16+1069delinsCTG	NP_001341710.1:n.-16+1067_-16+1069delinsCTG
NM_001354782.2:c.-16+137_-16+139delinsCTG	NP_001341711.1:n.-16+137_-16+139delinsCTG
NM_001354783.2:c.-181+137_-181+139delinsCTG	NP_001341712.1:n.-181+137_-181+139delinsCTG
NM_001354784.2:c.-90+1067_-90+1069delinsCTG	NP_001341713.1:n.-90+1067_-90+1069delinsCTG
NM_032991.3:c.-16+1067_-16+1069delinsCTG	NP_116786.1:n.-16+1067_-16+1069delinsCTG